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Article

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.

BMC medical genetics - 31 Jan 2017

Demily Caroline, Poisson Alice, Peyroux Elodie, Gatellier Valérie, Nicolas Alain, Rigard Caroline, Schluth-Bolard Caroline, Sanlaville Damien, Rossi Massimiliano

Abstract excerpt

BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and...

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Identifiers

PMID: 28137251
DOI: 10.1186/s12881-017-0371-1
PMCID: PMC5282903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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